Variant report

Variant	rs7304287
Chromosome Location	chr12:122689495-122689496
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122688160..122690771-chr12:122750336..122752523,2	MCF-7	breast:
2	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
3	chr12:122689282..122691935-chr12:122699257..122701541,2	MCF-7	breast:
4	chr12:122326336..122328188-chr12:122688489..122691049,2	MCF-7	breast:
5	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
6	chr12:122522234..122524489-chr12:122689205..122691310,2	MCF-7	breast:
7	chr12:122688288..122691366-chr12:122708809..122712145,5	K562	blood:
8	chr12:122689006..122695894-chr12:122708656..122711898,6	MCF-7	breast:
9	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:
10	chr12:122674983..122677095-chr12:122689266..122691695,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256950	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000110801	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1001178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12310939	1.00[EUR][1000 genomes]
rs28439749	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28536732	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579554	1.00[EUR][1000 genomes]
rs55639239	1.00[EUR][1000 genomes]
rs56229172	1.00[EUR][1000 genomes]
rs56276573	1.00[EUR][1000 genomes]
rs58044975	1.00[EUR][1000 genomes]
rs58583917	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58865449	1.00[EUR][1000 genomes]
rs58928984	1.00[EUR][1000 genomes]
rs59638725	1.00[EUR][1000 genomes]
rs60425908	1.00[EUR][1000 genomes]
rs60595657	1.00[EUR][1000 genomes]
rs61140498	0.86[EUR][1000 genomes]
rs7135931	1.00[EUR][1000 genomes]
rs7136074	1.00[EUR][1000 genomes]
rs7294427	1.00[EUR][1000 genomes]
rs7294849	1.00[EUR][1000 genomes]
rs7305870	1.00[EUR][1000 genomes]
rs73404008	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404018	1.00[EUR][1000 genomes]
rs73404020	1.00[EUR][1000 genomes]
rs73404029	1.00[EUR][1000 genomes]
rs73404037	1.00[EUR][1000 genomes]
rs73404045	1.00[EUR][1000 genomes]
rs73404046	1.00[EUR][1000 genomes]
rs73404065	1.00[EUR][1000 genomes]
rs73405849	1.00[EUR][1000 genomes]
rs73405864	1.00[EUR][1000 genomes]
rs73421714	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421716	0.81[AFR][1000 genomes]
rs73421719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421737	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421739	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421744	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421747	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421765	1.00[EUR][1000 genomes]
rs7484523	0.89[AFR][1000 genomes]
rs7952820	1.00[EUR][1000 genomes]
rs9971771	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv3363771	chr12:122687274-122690547	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122687400-122689600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:122687400-122690000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr12:122688200-122696600	Weak transcription	Hela-S3	cervix
4	chr12:122688600-122689800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:122688600-122690000	Bivalent Enhancer	Placenta	Placenta
6	chr12:122688600-122692200	Weak transcription	GM12878-XiMat	blood
7	chr12:122688800-122689600	Weak transcription	K562	blood
8	chr12:122688800-122690600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr12:122688800-122692600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:122688800-122694200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:122688800-122694400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:122689000-122690200	Bivalent Enhancer	Fetal Brain Male	brain
13	chr12:122689000-122690600	Bivalent Enhancer	Adipose Nuclei	Adipose
14	chr12:122689000-122691600	Weak transcription	Aorta	Aorta
15	chr12:122689000-122691800	Weak transcription	Liver	Liver
16	chr12:122689000-122691800	Weak transcription	HSMMtube	muscle
17	chr12:122689000-122709000	Weak transcription	Right Atrium	heart
18	chr12:122689200-122689600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:122689200-122689600	Enhancers	Pancreas	Pancrea
20	chr12:122689200-122689600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:122689200-122689800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:122689200-122689800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr12:122689200-122689800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:122689200-122689800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:122689200-122690000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:122689200-122690000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:122689200-122690000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:122689200-122690200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:122689200-122690200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:122689200-122690200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr12:122689200-122690200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
32	chr12:122689200-122690400	Enhancers	Esophagus	oesophagus
33	chr12:122689200-122691200	Weak transcription	Right Ventricle	heart
34	chr12:122689200-122691400	Weak transcription	Ovary	ovary
35	chr12:122689200-122691400	Weak transcription	HSMM	muscle
36	chr12:122689200-122691600	Weak transcription	Gastric	stomach
37	chr12:122689200-122691600	Weak transcription	HMEC	breast
38	chr12:122689200-122692600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:122689200-122694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:122689200-122696800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:122689400-122689600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:122689400-122689600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:122689400-122689600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:122689400-122689800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:122689400-122689800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:122689400-122689800	Bivalent Enhancer	Brain Anterior Caudate	brain
47	chr12:122689400-122689800	Weak transcription	Lung	lung
48	chr12:122689400-122690000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr12:122689400-122690000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:122689400-122690200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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